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Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia
Biallelic variants in RSPRY1 have been found to result in spondyloepimetaphyseal dysplasia. Two siblings presenting with short stature, facial dysmorphism, progressive vertebral defects, small epiphysis, cupping and fraying of metaphyses, brachydactyly, and short metatarsals harbored a homozygous mi...
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| Pubblicato in: | Am J Med Genet A |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2024
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7616131/ https://ncbi.nlm.nih.gov/pubmed/38562122 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.63601 |
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